rs34588967
- Benign
- Benign/Likely benign
Your Genotype
Sign InDescription
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Reference Allele
C
Alternative Allele
A
T
Chromosome
10
Location
78009889
Variant Type
SNP
Genes
ClinVar
Name
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)
Allele
A
Clinical Significance
Benign
Name
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His)
Allele
T
Clinical Significance
Benign/Likely benign